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rs138471431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Friedreich's ataxia
(C;T) 3 carrier of a Friedreich's ataxia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position69065016
GeneFXN
is asnp
is mentioned by
dbSNPrs138471431
ebirs138471431
HLIrs138471431
Exacrs138471431
Varsomers138471431
Maprs138471431
PheGenIrs138471431
hapmaprs138471431
1000 genomesrs138471431
hgdprs138471431
ensemblrs138471431
gopubmedrs138471431
geneviewrs138471431
scholarrs138471431
googlers138471431
pharmgkbrs138471431
gwascentralrs138471431
openSNPrs138471431
23andMers138471431
23andMe allrs138471431
SNP Nexus

SNPshotrs138471431
SNPdbers138471431
MSV3drs138471431
GWAS Ctlgrs138471431
Max Magnitude6
rs138471431, also known as c.463 T>C or p.W155R, is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk rs138471431(C;C)
Alt rs138471431(C;C)
Reference rs138471431(T;T)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71679932T>C
CLNSRC
CLNACC


[PMID 10881262] Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.